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primary ciliary dyskinesia 3
Summary
- Synonym
-
- CILD3
- primary ciliary dyskinesia 3 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15.
- Super Class
- primary ciliary dyskinesia
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002643 | Neonatal respiratory distress |
| HP:0001217 | Clubbing |
| HP:0005301 | Persistent left superior vena cava |
| HP:0002011 | Morphological central nervous system abnormality |
| HP:0010772 | Anomalous pulmonary venous return |
| HP:0001719 | Double outlet right ventricle |
| HP:0002566 | Intestinal malrotation |
| HP:0011274 | Recurrent mycobacterial infections |
| HP:0001746 | Asplenia |
| HP:0002878 | Respiratory failure |
